RE: FDA15 Jan 2025 15:42
"Traditionally, genetic testing has been undertaken using laboratory-based techniques, which are lengthy and logistically complex processes requiring blood or saliva specimens to be sent to diagnostic laboratories, which may be located far from the point of clinical need. In the context of genetic testing for rare inherited disease, which has historically represented most of genomic laboratory activity, this testing approach has not been problematic as results are rarely required rapidly to inform treatment decisions. However, the emergence of pharmacogenetics as a clinical entity has led to scenarios where results are required to guide treatment in the acute clinical setting.1 To address this unmet need, point-of-care testing devices have been developed, which are able to provide rapid patient genotype results for the management of time-critical conditions."
"At present, CYP2C19 genotyping is not widely available from the genetic laboratories that serve the UK National Health Service (NHS) and, as existing infrastructure has been developed to mainly deliver rare disease and cancer testing in the outpatient context, results may take many weeks. Given the potential scale of CYP2C19 testing recommended by NICE and considering the acute nature of most stroke admissions, with a clear time pressure to commence definitive antiplatelet therapy, this represents a major unmet need."
"The assertion that, in theory, laboratory-based testing approaches allow a broader coverage of alleles is accurate. However, laboratory testing is heterogeneous and, in practice, most CYP2C19 testing approaches used in practice remain genotyping based and survey a small number of clinically relevant variants. More detailed sequencing-based approaches to include rarer, less well-evidenced, variants are available but come with several trade-offs. The cost, complexity, and turnaround time of these approaches would require considerable adaptation to existing clinical pathways, and there is significant uncertainty regarding whether they could be successfully implemented in the context of an acute presentation, such as ischemic stroke. These technologies may add value when used pre-emptively, where pharmacogenetic data are integrated into a patient's clinical record, but they are not easily conducive to a reactive implementation model."
Sign In
Follow the stocks
